180 results match your criteria Sickle Cell Anemia Skeletal


Occlusal Disorders in Patients with Sickle Cell Disease: Critical Literature Review.

J Clin Pediatr Dent 2021 Apr;45(2):117-122

Objective: To identify the association of occlusal disorders in patients with sickle cell disease (SCD).

Study Design: A literature review was conducted, and articles published between 2010 and 2019 were searched on Bireme and PubMed websites and in MEDLINE and LILACS databases, in English, Portuguese, and Spanish, using the keywords "malocclusion," "sickle cell disease," and "cephalometry," combined by Boolean operators AND and OR. One of the criteria for the selection of articles was the presence of adolescents in the sample. Read More

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In vivo muscle function and energetics in women with sickle cell anemia or trait: a P-magnetic resonance spectroscopy study.

J Appl Physiol (1985) 2021 Mar 10;130(3):737-745. Epub 2020 Dec 10.

Aix-Marseille Université, CNRS, CRMBM, Marseille, France.

Sickle cell anemia (SCA) is a genetic hemoglobinopathy associated with an impaired oxygen delivery to skeletal muscle that could alter ATP production processes and increase intramuscular acidosis. These alterations have been already reported in the Townes mouse model of SCA but the corresponding changes in humans have not been documented. In the present study, we used 31-phosphorus magnetic resonance spectroscopy to investigate in vivo the metabolic changes induced by a moderate-intensity exercise in twelve SCA patients, eight sickle cell trait (SCT) carriers, and twelve controls women. Read More

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Muscle structural, energetic and functional benefits of endurance exercise training in sickle cell disease.

Am J Hematol 2020 11 1;95(11):1257-1268. Epub 2020 Aug 1.

Laboratoire Interuniversitaire de Biologie de la Motricité, Université Savoie Mont Blanc, Chambéry, France.

Sickle cell disease (SCD) patients display skeletal muscle hypotrophy, altered oxidative capacity, exercise intolerance and poor quality of life. We previously demonstrated that moderate-intensity endurance training is beneficial for improving muscle function and quality of life of patients. The present study evaluated the effects of this moderate-intensity endurance training program on skeletal muscle structural and metabolic properties. Read More

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November 2020

Development of Algorithm for Clinical Management of Sickle Cell Bone Disease: Evidence for a Role of Vertebral Fractures in Patient Follow-up.

J Clin Med 2020 May 25;9(5). Epub 2020 May 25.

Section of Internal Medicine, Department of Medicine, University of Verona, 37134 Verona, Italy.

Sickle-cell disease (SCD) is a worldwide distributed hemoglobinopathy, characterized by hemolytic anemia associated with vaso-occlusive events. These result in acute and chronic multiorgan damage. Bone is early involved, leading to long-term disability, chronic pain and fractures. Read More

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Translating exercise benefits in sickle cell disease.

Blood 2019 12;134(25):2227-2229

Ann & Robert H. Lurie Children's Hospital of Chicago.

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December 2019

HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation.

Eur J Haematol 2020 Mar 12;104(3):214-222. Epub 2019 Dec 12.

Unit of Pediatric Hematology and Oncology, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

Objectives: HbS/β+ patients' presence in Italy increased due to immigration; these patients are clinically heterogeneous, and specific guidelines are lacking. Our aim is to describe a cohort of HbS/β+ patients, with genotype-phenotype correlation, in order to offer guidance for clinical management of such patients.

Methods: Retrospective cohort study of HbS/β+ patients among 15 AIEOP Centres. Read More

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Beneficial effects of endurance exercise training on skeletal muscle microvasculature in sickle cell disease patients.

Blood 2019 12;134(25):2233-2241

Laboratoire Interuniversitaire de Biologie de la Motricité, Université de Lyon, Université Jean Monnet, Saint-Etienne, France.

Sickle cell disease (SCD) is a genetic hemoglobinopathy leading to 2 major clinical manifestations: severe chronic hemolytic anemia and iterative vaso-occlusive crises. SCD is also accompanied by profound muscle microvascular remodeling. The beneficial effects of endurance training on microvasculature are widely known. Read More

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December 2019

Urinary cross-linked carboxyterminal telopeptide, a bone resorption marker, decreases after vaso-occlusive crises in adults with sickle cell disease.

Blood Cells Mol Dis 2020 02 24;80:102369. Epub 2019 Oct 24.

Department of Medicine, Division of Hematology, University of Washington School of Medicine, Seattle, WA, United States of America; Washington Center for Bleeding Disorders at Bloodworks Northwest, University of Washington, Seattle, WA, United States of America.

People with sickle cell disease often report severe bone pain with repeated bouts of vaso-occlusive crises, but the extent of skeletal injury incurred during these painful episodes remain unclear. We sought to quantify bone degradation by comparing urinary concentrations of carboxyterminal cross-linked telopeptide of type I collagen (CTX-1), a well-described marker of bone resorption, in a prospective cohort of 52 adults with sickle cell disease enrolled in the Sickle Cell Pain Markers Study. We also questioned if changes in urinary CTX-1 concentrations correlated with changes in hemolysis and inflammatory markers measured both during and after resolution of a painful vaso-occlusive episode. Read More

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February 2020

Craniofacial and occlusal features of children with sickle cell disease compared to normal standards: a clinical and radiographic study of 50 paediatric patients.

Eur Arch Paediatr Dent 2020 Jun 17;21(3):303-311. Epub 2019 Oct 17.

Mahavir Surgical Hospital, Chandrapur, Maharashtra, India.

Purpose: To evaluate craniofacial and occlusal features of children with sickle cell disease and compare them with the normal healthy children.

Methods: A total of 50 children diagnosed with sickle cell disease (Group I) and 50 normal healthy children (Group II) between age 10 and 18 years were included in the study. Dental casts were obtained, occlusal traits were recorded and DAI and DHC-IOTN were calculated. Read More

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Effects of Individualized Treadmill Endurance Training on Oxidative Stress in Skeletal Muscles of Transgenic Sickle Mice.

Oxid Med Cell Longev 2019 24;2019:3765643. Epub 2019 Jul 24.

Interuniversity Laboratory of Human Movement Biology EA7424, Vascular Biology and Red Blood Cell Team, University Claude Bernard Lyon 1, Villeurbanne, France.

Oxidative stress is a key feature in the pathophysiology of sickle cell disease. Endurance training has been shown to reduce oxidative stress in the heart and the liver of sickle mice. However, the effects of endurance training on skeletal muscles, which are major producers of reactive oxygen species during exercise, are currently unknown. Read More

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January 2020

Contrast-enhanced ultrasound detects changes in microvascular blood flow in adults with sickle cell disease.

PLoS One 2019 5;14(7):e0218783. Epub 2019 Jul 5.

Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, United States of America.

In patients with sickle cell disease (SCD), poor outcome measures compromise the potential success of clinical trials. Contrast-enhanced ultrasound (CEUS) is a technique that can non-invasively quantify deep tissue microvascular blood flow. We tested the hypothesis that CEUS of forearm skeletal muscle could be used to: 1) assess microvascular abnormalities that occur during vaso-occlusive crisis; and 2) test new therapies for SCD that are targeted to improving the status of the microcirculation. Read More

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February 2020

Weak and Winded.

N Engl J Med 2019 Jul;381(1):76-82

From the Departments of Neurology (I.L., K.N.) and Medicine (J.B.W., L.L.W.), University of Alabama at Birmingham, Birmingham.

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Sickle cell diseases: What can nuclear medicine offer?

Hell J Nucl Med 2019 Jan-Apr;22(1):2-3. Epub 2019 Mar 7.

Nuclear Medicine Unit, Interdisciplinary Department of Medicine, University of Bari "Aldo Moro", Bari, Italy.

Sickle cell disease (SCD) is the best known haemoglobinopathy, caused by a mutation substituting valina for glutamic acid at position 6 of the beta-globin chain of adult hemoglobin A, resulting in hemoglobin S (HbS). The homozygous HbS disease (HbSS), an autosomal recessive disorder, is the most common form and the Mediterranean area, along with sub-Saharian African and India, have the highest prevalence (1%-15%). In particular, Sicily with a prevalence of 2%-5%, is among the most interested regions. Read More

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Ischaemia-induced muscle metabolic abnormalities are poorly alleviated by endurance training in a mouse model of sickle cell disease.

Exp Physiol 2019 03 15;104(3):398-406. Epub 2019 Jan 15.

Aix-Marseille Univ, CNRS, CRMBM, Marseille, France.

New Findings: What is the central question of this study? The aim of this study was to evaluate the potential beneficial effects of endurance training during an ischaemia-reperfusion protocol in a mouse model of sickle cell disease (SCD). What is the main finding and its importance? Endurance training did not reverse the metabolic defects induced by a simulated vaso-occlusive crisis in SCD mice, with regard to intramuscular acidosis, mitochondrial dysfunction or anatomical properties. Our results suggest that endurance training would reduce the number of vaso-occlusive crises rather than the complications related to vaso-occlusive crises. Read More

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Exacerbated metabolic changes in skeletal muscle of sickle cell mice submitted to an acute ischemia-reperfusion paradigm.

Clin Sci (Lond) 2018 10 2;132(19):2103-2115. Epub 2018 Oct 2.

Aix-Marseille Univ, CNRS, CRMBM, Marseille, France.

Sickle cell disease (SCD) is characterized by painful vaso-occlusive crisis. While there are several metabolic abnormalities potentially associated with muscular ischemia-reperfusion cycles that could be harmful in the context of SCD, the metabolic consequences of such events are still unknown. Ten controls (HbAA), thirteen heterozygous (HbAS), and ten homozygous (HbSS) SCD mice were submitted to a standardized protocol of rest-ischemia-reperfusion of the left leg during which adenosine triphosphate, phosphocreatine, and inorganic phosphate concentrations as well as intramuscular pH were measured using phosphorous magnetic resonance spectroscopy (MRS). Read More

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October 2018

A microfluidic approach to study the effect of mechanical stress on erythrocytes in sickle cell disease.

Lab Chip 2018 09;18(19):2975-2984

Biologie Intégrée du Globule Rouge UMR_S1134, Inserm, Univ. Paris Diderot, Sorbonne Paris Cité, Univ. de la Réunion, Univ. des Antilles, INTS, 6 rue Alexandre Cabanel, 75015 Paris, France.

The human red blood cell is a biconcave disc of 6-8 × 2 μm that is highly elastic. This capacity to deform enables it to stretch while circulating through narrow capillaries to ensure its main function of gas exchange. Red cell shape and deformability are altered in membrane disorders because of defects in skeletal or membrane proteins affecting protein-protein interactions. Read More

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September 2018

The role of nitrite in muscle function, susceptibility to contraction injury, and fatigability in sickle cell mice.

Nitric Oxide 2018 11 14;80:70-81. Epub 2018 Aug 14.

Department of Perioperative Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD, 20892, USA. Electronic address:

Sickle cell disease (SCD) patients can have limited exercise capacity and muscle dysfunction characterized by decreased force, atrophy, microvascular abnormalities, fiber distribution changes, and skeletal muscle energetics abnormalities. Growing evidence suggests that in SCD there is alteration in nitric oxide (NO) availability/signaling and that nitrate/nitrite can serve as a NO reservoir and enhance muscle performance. Here, we examined effects of nitrite on muscle strength, exercise capacity, and on contractile properties of fast-(extensor digitorum longus, EDL) and slow-twitch (soleus) muscles in SCD mice. Read More

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November 2018

How Sickle Cell Disease Impairs Skeletal Muscle Function: Implications in Daily Life.

Med Sci Sports Exerc 2019 01;51(1):4-11

Inter-university Laboratory of Human Movement Sciences, University of Savoie Mont Blanc, Chambéry, FRANCE.

Sickle cell disease (SCD) is the most frequent life-threatening genetic hemoglobinopathy in the world and occurs due to the synthesis of abnormal hemoglobin S (HbS). hemoglobin S-containing red blood cells (RBC) are fragile, leading to hemolysis and anemia, and adhere to the endothelium, leading to hemorheological and hemodynamical disturbances. In its deoxygenated form, HbS may polymerize, leading to sickling of red blood cells and potentially to vasoocclusive crises. Read More

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January 2019

Muscle dysfunction is associated with poorer health-related quality of life in adults with sickle cell anaemia.

J Back Musculoskelet Rehabil 2019 ;32(1):43-53

Rehabilitation Sciences Post-Graduation Programme, Augusto Motta University, Rio de Janeiro, Brazil.

Background: It is known that episodes of microvascular obstruction and oxidative stress in sickle cell anaemia (SCA) can damage muscle tissue. As a consequence, deterioration in muscle function may potentially contribute to poor health-related quality of life (HRQoL) in subjects with SCA, particularly those who do not use long-term treatment.

Objectives: To evaluate muscle function in adults with SCA, to study the correlations between muscle function and HRQoL and to analyse the impact of hydroxyurea treatment. Read More

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Impaired Collateral Vessel Formation in Sickle Cell Disease.

Arterioscler Thromb Vasc Biol 2018 05 15;38(5):1125-1133. Epub 2018 Mar 15.

From the Division of Cardiology, Department of Medicine, Emory University School of Medicine, Atlanta, GA (D.-O.D., L.H., G.J., A.N.L., D.W., W.R.T.)

Objective: The adaptive response to vascular injury is the formation of functional collateral vessels to maintain organ integrity. Many of the clinical complications associated with sickle cell disease can be attributed to repeated bouts of vascular insufficiency, yet the detailed mechanisms of collateral vessel formation after injury are largely unknown in sickle cell disease. Here, we characterize postischemic neovascularization in sickle cell disease and the role of neutrophils in the production of reactive oxygen species. Read More

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Bone and blood interactions in human health and disease.

Bone 2019 02 21;119:65-70. Epub 2018 Feb 21.

Division of Endocrinology, Stanford University School of Medicine, Stanford, CA, United States. Electronic address:

Under physiologic conditions hematopoiesis takes place in the bone marrow, and the skeleton provides the structural and supportive network necessary for normal hematopoiesis. Chronic disorders affecting hematopoiesis such as sickle cell anemia and thalassemia demonstrate striking skeletal phenotypes including bone loss and increased fracture risk. There is mounting evidence that anemia in older populations may also be associated with bone fragility. Read More

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February 2019

Differential diagnostic perspectives provided by en face microscopic examination of articular surface defects.

Clin Rheumatol 2018 Mar 4;37(3):831-836. Epub 2018 Feb 4.

Department of Vertebrate Paleontology, Carnegie Museum, Pittsburgh, PA, 15213, USA.

Surface defects have a central position in diagnosis of articular pathology. Recognizing the limitations of standard radiologic techniques and those imposed by positioning and averaging artifacts on CT evaluation, direct visualization of surface defects was pursued to identify disease characteristics that would facilitate interpretation of radiologic findings. Epi-illumination surface microscopy was utilized to examine macroscopically recognized articular surface defects in individuals in the Hamann-Todd, Terry, and Huntington human skeletal collections with previously verified diagnoses of rheumatoid arthritis, spondyloarthropathy, juvenile inflammatory arthritis (JIA), calcium pyrophosphate deposition disease (CPPD), gout, metastatic cancer, multiple myeloma, septic arthritis, tuberculosis, fungal arthritis, histiocytosis and sickle cell anemia (Rothschild and Rothschild Clin Infect Dis 20(5):1402-1408, 1995; Rothschild et al. Read More

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Endurance training reduces exercise-induced acidosis and improves muscle function in a mouse model of sickle cell disease.

Mol Genet Metab 2018 03 28;123(3):400-410. Epub 2017 Nov 28.

Aix-Marseille Univ, CNRS, CRMBM, Marseille, France.

Sickle cell disease (SCD) mice (Townes model of SCD) presented exacerbated exercise-induced acidosis and fatigability as compared to control animals. We hypothesize that endurance training could represent a valuable approach to reverse these muscle defects. Endurance-trained HbAA (HbAA-END, n=10), HbAS (HbAS-END, n=11) and HbSS (HbSS-END, n=8) mice were compared to their sedentary counterparts (10 HbAA-SED, 10 HbAS-SED and 9 HbSS-SED mice) during two rest - exercise - recovery protocols during which muscle energetics and function were measured. Read More

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Skeletal and myocardial microvascular blood flow in hydroxycarbamide-treated patients with sickle cell disease.

Br J Haematol 2017 11 7;179(4):648-656. Epub 2017 Sep 7.

Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR, USA.

In sickle cell disease (SCD), abnormal microvascular function combined with chronic anaemia predisposes patients to perfusion-demand mismatch. We hypothesized that skeletal muscle and myocardial perfusion, normalized to the degree of anaemia, is reduced at basal-state compared to controls, and that this defect is ameliorated by hydroxycarbamide (HC; also termed hydroxyurea) therapy. Twenty-one SCD patients, of whom 15 were treated with HC, and 27 controls underwent contrast-enhanced ultrasound (CEU) perfusion imaging of the forearm as well as the myocardium. Read More

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November 2017

Exacerbated in vivo metabolic changes suggestive of a spontaneous muscular vaso-occlusive crisis in exercising muscle of a sickle cell mouse.

Blood Cells Mol Dis 2017 06 11;65:56-59. Epub 2017 May 11.

Aix-Marseille Univ, CNRS, CRMBM, Marseille, France.

While sickle cell disease (SCD) is characterized by frequent vaso-occlusive crisis (VOC), no direct observation of such an event in skeletal muscle has been performed in vivo. The present study reported exacerbated in vivo metabolic changes suggestive of a spontaneous muscular VOC in exercising muscle of a sickle cell mouse. Using magnetic resonance spectroscopy of phosphorus 31, phosphocreatine and inorganic phosphate concentrations and intramuscular pH were measured throughout two standardized protocols of rest - exercise - recovery at two different intensities in ten SCD mice. Read More

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Moderate and intense muscular exercises induce marked intramyocellular metabolic acidosis in sickle cell disease mice.

J Appl Physiol (1985) 2017 May 9;122(5):1362-1369. Epub 2017 Mar 9.

Aix-Marseille Univ, CNRS, CRMBM, Marseille, France; and.

Sickle cell disease (SCD) is associated with an impaired oxygen delivery to skeletal muscle that could alter ATP production processes. The present study aimed to determine the effects of sickle hemoglobin (HbS) on muscle pH homeostasis in response to exercise in homozygous (HbSS, = 9) and heterozygous (HbAS, = 10) SCD (Townes) mice in comparison to control (HbAA, = 10) littermates. Magnetic resonance spectroscopy of phosphorus 31 enabled to measure intramuscular pH and phosphocreatine (PCr) concentration during rest-stimulation-recovery protocols at two different intensities. Read More

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Myonecrosis in Sickle Cell Anemia: Case Study.

Am J Case Rep 2017 Jan 30;18:100-103. Epub 2017 Jan 30.

Department of Podiatry, Advocate Illinois Masonic Hospital/Stroger Hospital of Cook County, Chicago, IL, USA.

BACKGROUND Myonecrosis is one of the more poorly studied, painful manifestations of sickle cell crisis. Medical literature is sparse detailing the manifestations and management of such symptoms. In myonecrosis, red cells containing sickle hemoglobin become rigid, resulting in reduced blood flow and myonecrosis. Read More

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January 2017

Impaired muscle force production and higher fatigability in a mouse model of sickle cell disease.

Blood Cells Mol Dis 2017 03 11;63:37-44. Epub 2017 Jan 11.

Aix-Marseille Univ, CNRS, CRMBM, Marseille, France.

Skeletal muscle function has been scarcely investigated in sickle cell disease (SCD) so that the corresponding impact of sickle hemoglobin is still a matter of debate. The purpose of this study was to investigate muscle force production and fatigability in SCD and to identify whether exercise intensity could have a modulatory effect. Ten homozygous sickle cell (HbSS), ten control (HbAA) and ten heterozygous (HbAS) mice were submitted to two stimulation protocols (moderate and intense) to assess force production and fatigability. Read More

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Muscle IL1β Drives Ischemic Myalgia via ASIC3-Mediated Sensory Neuron Sensitization.

J Neurosci 2016 06;36(26):6857-71

Department of Anesthesia, Division of Pain Management, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio 45229

Unlabelled: Musculoskeletal pain is a significantly common clinical complaint. Although it is known that muscles are quite sensitive to alterations in blood flow/oxygenation and a number of muscle pain disorders are based in problems of peripheral perfusion, the mechanisms by which ischemic-like conditions generate myalgia remain unclear. We found, using a multidisciplinary experimental approach, that ischemia and reperfusion injury (I/R) in male Swiss Webster mice altered ongoing and evoked pain-related behaviors in addition to activity levels through enhanced muscle interleukin-1 beta (IL1β)/IL1 receptor signaling to group III/IV muscle afferents. Read More

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Young Man With Bilateral Arm Pain.

Ann Emerg Med 2016 Jun;67(6):e21-e22

Department of Emergency Medicine, McGill University Health Centre, Montreal, Quebec, Canada.

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